Canonical Allele Identifier: CA658799578

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 521518
• ClinVar RCV Id: RCV000624132
• dbSNP Id: rs1555904596
• MyVariant Identifiers: chrX:g.8699978_8699988dup (hg19) ; chrX:g.8731937_8731947dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731944_8731954dup , CM000685.2:g.8731944_8731954dup	GRCh38
NC_000023.10:g.8699985_8699995dup , CM000685.1:g.8699985_8699995dup	GRCh37
NC_000023.9:g.8659985_8659995dup	NCBI36
NG_007088.1:g.5240_5250dup
NG_007088.2:g.5240_5250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.90_100dup MANE Select	ENSP00000262648.3:p.Arg34LeufsTer25
ENST00000262648.7:c.90_100dup	ENSP00000262648.3:p.Arg34LeufsTer25
ENST00000619786.1:c.89_98dup
NM_000216.2:c.90_100dup	NP_000207.2:p.Arg34LeufsTer25
XM_005274501.3:c.90_100dup	XP_005274558.1:p.Arg34LeufsTer25
NM_000216.3:c.90_100dup	NP_000207.2:p.Arg34LeufsTer25
XM_005274501.4:c.90_100dup	XP_005274558.1:p.Arg34LeufsTer25
NM_000216.4:c.90_100dup MANE Select	NP_000207.2:p.Arg34LeufsTer25